Epileptic encephalopathies are a devastating group of epilepsies with poor prognosis, of
which the majority are of unknown etiology. We perform targeted massively parallel …

We identified 15q13.3 microdeletions encompassing the CHRNA7 gene in 12 of 1,223
individuals with idiopathic generalized epilepsy (IGE), which were not detected in 3,699 controls (…

Objective: SCN8A encodes the sodium channel voltage-gated α8-subunit (Na v 1.6). SCN8A
mutations have recently been associated with epilepsy and neurodevelopmental disorders. …

Idiopathic focal epilepsy (IFE) with rolandic spikes is the most common childhood epilepsy,
comprising a phenotypic spectrum from rolandic epilepsy (also benign epilepsy with …

Mutations in SCN2A, a gene encoding the voltage-gated sodium channel Na v 1.2, have
been associated with a spectrum of epilepsies and neurodevelopmental disorders. Here, we …

Idiopathic generalized epilepsies account for 30% of all epilepsies. Despite a predominant
genetic aetiology, the genetic factors predisposing to idiopathic generalized epilepsies …

Objective: To determine the genes underlying Dravet syndrome in patients who do not have
an SCN1A mutation on routine testing. Methods: We performed whole-exome sequencing in …

Emerging evidence indicates that epileptic encephalopathies are genetically highly
heterogeneous, underscoring the need for large cohorts of well-characterized individuals to further …

Progressive myoclonus epilepsies (PMEs) are a group of rare, inherited disorders manifesting
with action myoclonus, tonic-clonic seizures and ataxia. We sequenced the exomes of 84 …

Objective: To give a comprehensive overview of the phenotypic and genetic spectrum of
STXBP1 encephalopathy (STXBP1-E) by systematically reviewing newly diagnosed and …